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IntroductionChronic spontaneous urticaria (CSU) is a clinical diagnosis managed according to American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) guide...

Dosing immunoglobulin G (IgG) replacement therapy in primary immunodeficiency disease (PIDD) depends on IgG pharmacokinetics (PK) and patients’ clinical status. Conventionally, PK data used to determine dosing were bas...

We present the case of a 43-year-old male who presented to pulmonology with 3 years of chronic cough and recurrent sinopulmonary infections. He was diagnosed with bronchiectasis and found to have mild thrombocytopenia an...

Although Brazil has experienced substantial immigration from the Middle East and Italy, regions with a higher prevalence of pyrin-associated autoinflammatory diseases, pyrinopathies, remain under-investigated in the coun...

BackgroundPyoderma gangrenosum (PG) is a rare ulcerative neutrophilic dermatosis that can be associated with primary immunodeficiencies. Its pathogenesis is incompletely understood, but it has been increasingly reported ...

BackgroundAlthough drug rash with eosinophilia and systemic symptoms (DRESS) and anticonvulsant hypersensitivity syndrome are well-known complications of anti-seizure medications (ASMs), lesser-known immunologic complica...

S-adenosylhomocysteine (SAH) hydrolase deficiency is a rare autosomal recessive disorder caused by pathogenic variants of the gene AHCY. Loss of SAH hydrolase causes SAH accumulation and impairs the methionine/S-adenosyl...

BackgroundSolid organ transplantation is an effective treatment for end-stage organ diseases, including renal, hepatic, cardiac, and pulmonary failure (1). Long-term graft survival depends on sustained immunosuppression;...

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive combined immunodeficiency marked by severe atopy, recurrent viral and bacterial infections, high immunoglobulin E, eosinophilia, and lymphopenia...

Interferon regulatory factor-2-binding protein-2 (IRF2BP2) is a transcriptional regulator affecting diverse cellular functions, including cell differentiation and apoptosis. It plays an important role in lymphocyte and m...

IntroductionVaginal seeding has been proposed to restore the microbiome of babies born via caesarean section, but the associated risk of infection is unknown. We present the first case of disseminated candidiasis after v...

BackgroundPatients with acute myeloid leukemia (AML) and prolonged neutropenia are at high risk for invasive fungal infections such as fusariosis, which represents the second most common pathogenic mold infection in this...

IntroductionIncreased risk of infections in patients with hematological malignancies (HM) is a growing concern. Immunoglobulin-replacement therapy (IgRT) is used to reduce infection risk in patients who develop secondary...

BackgroundX-linked hyper-IgM syndrome (XHIM) due to CD40L deficiency typically presents in early childhood with recurrent sinopulmonary or opportunistic infections, and its initial manifestations can be misleading. We re...

BackgroundSevere combined immunodeficiency (SCID) is a life-threatening condition that requires urgent medical attention. Newborn screening (NBS) using the T cell receptor excision circle (TREC) assay facilitates early d...

IntroductionRNU4ATAC-opathies are characterized by biallelic pathogenic variants and include three recognized phenotypes: autosomal recessive Roifman syndrome, microcephalic osteodysplastic primordial dwarfism (MOPD), an...

Reticular dysgenesis (RD) is a rare, severe form of severe combined immunodeficiency (SCID) caused by biallelic AK2 mutations, leading to profound defects in lymphoid and myeloid maturation. Unlike other SCID phenotypes,...

BackgroundEarly complement pathway deficiencies predispose to invasive infections with encapsulated bacteria. C2 deficiency is the most common human complement deficiency, yet it may remain clinically silent until a life...

The mechanisms underlying thymic dysfunction in the 22q11.2 deletion syndrome are poorly defined. In this study, Hennings et al. integrated spatial transcriptomic and proteomic analyses of thymus tissue from patients wit...

BackgroundInterleukin-2–inducible T cell kinase (ITK) deficiency classically presents with EBV-driven lymphoproliferation and lymphoma, but emerging data suggest broader phenotypes of immune dysregulation. The pathogen...

BackgroundGATA2 deficiency results from heterozygous pathogenic variants in the GATA2 gene, which encodes a zinc-finger transcription factor essential for hematopoietic stem and progenitor cell development. It is a highl...

Background and AimsAcquired immunodeficiency in patients with hematological oncology is a serious and common complication, significantly impacting prognosis and quality of life. High doses of cytostatic drugs and the mal...

BackgroundGranulomatous-lymphocytic interstitial lung disease (GLILD) is a noninfectious interstitial lung disorder characterized by granulomatous inflammation and lymphoid proliferation. It is most frequently identified...

RationaleCommon variable immunodeficiency (CVID) is a chronic, multisystem immune disorder associated with substantial symptom burden beyond infections, particularly among individuals with noninfectious inflammatory comp...